SHORT syndrome

Definition:

SHORT syndrome is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies, teething delay, partial lipodystrophy, insulin resistance, and facial dysmorphic signs. Mutations in PIK3R1 cause this syndrome.

References:

[1]. David A Dyment, et al. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013 Jul 11;93(1):158-66. [Content Brief]

[2]. Kishan Kumar Chudasama, et al. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet. 2013 Jul 11;93(1):150-7. [Content Brief]

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